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内部出版物
SpringerLink电子期刊(8)
NATURE电子期刊(1)
Elsevier电子期刊(7)
在“
SpringerLink电子期刊
”中,
命中:
8
条,耗时:0.042011 秒
在所有数据库中总计命中:
16
条
1.
A mutation in the c-Fos gene associated with congenital generalized lipodystrophy
作者:
Birgit Knebel (8)
Jorg Kotzka (8)
Stefan Lehr (8)
Sonja Hartwig (8)
Haluk Avci (8)
Sylvia Jacob (8)
Ulrike Nitzgen (8)
Martina Schiller (8)
Winfried M?rz (10) (9)
Michael M Hoffmann (11) (12)
Eva
Seemanov
a (13)
Jutta Haas (14)
Dirk Muller-Wieland (14)
关键词:
Congenital lipodystrophy
;
Immediate early genes
;
Protein/DNA interaction
;
Transcriptional regulation
刊名:Orphanet Journal of Rare Diseases
出版年:2013
2.
Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients
作者:
Jana Soukupova (1)
Petr Pohlreich (1)
Eva
Seemanov
a (2)
关键词:
ATM
;
Ataxia telangiectasia
;
Mutation
;
Sequencing
;
MLPA
刊名:NeuroMolecular Medicine
出版年:2011
3.
Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings
作者:
Tom¨¢? Seeman
;
Marcela Mal¨ªkov¨¢
;
Kv¨§ta Bl¨¢hov¨¢ and
Eva
Seemanov
¨¢
关键词:
Autosomal recessive inheritance
;
Facial dysmorphy
;
Hand anomalies
;
Hepatic fibrosis
;
Mental retardation
;
Polycystic kidneys
;
Proximal implanted thumbs
刊名:Pediatric Nephrology
出版年:2009
4.
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by
MKS3/TMEM67
mutations
作者:
Tom¨¢? Seeman
;
Eva
Seemanov
¨¢
;
Gudrun Nuernberg
;
Peter Nuernberg
;
Sabine Janssen and Edgar A. Otto
刊名:Pediatric Nephrology
出版年:2010
5.
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
作者:
Oliver Bartsch
;
Sasan Rasi
;
Alicia Delicado
;
Sarah Dyack
;
Luitgard M. Neumann
;
Eva
Seemanov
á
;
Marianne Volleth
;
Thomas Haaf and Vera M. Kalscheuer
刊名:Human Genetics
出版年:2006
6.
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS
作者:
Oliver Bartsch
;
Stefanie Schmidt
;
Marion Richter
;
Susanne Morlot
;
Eva
Seemanov
á
;
Glenis Wiebe and Sasan Rasi
关键词:
CREB binding protein
;
Rubinstein–Taybi syndrome
;
Small molecular mutations
刊名:Human Genetics
出版年:2005
7.
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein¨CTaybi syndrome
作者:
Oliver Bartsch
;
Sasan Rasi
;
Alicia Delicado
;
Sarah Dyack
;
Luitgard M. Neumann
;
Eva
Seemanov
¨¢
;
Marianne Volleth
;
Thomas Haaf and Vera M. Kalscheuer
刊名:Human Genetics
出版年:2006
8.
DNA sequencing of
CREBBP
demonstrates mutations in 56 % of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS
作者:
Oliver Bartsch
;
Stefanie Schmidt
;
Marion Richter
;
Susanne Morlot
;
Eva
Seemanov
¨¢
;
Glenis Wiebe and Sasan Rasi
关键词:
CREB binding protein
;
Rubinstein–
;
Taybi syndrome
;
Small molecular mutations
刊名:Human Genetics
出版年:2005
1
按检索点细分(8)
作者(8)
按出版年细分(8)
2013年(1)
2011年(1)
2010年(1)
2009年(1)
2006年(2)
2005年(2)
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